Unbreakable bones and the inability to feel pain?
We’ve all had dreams of swooping in to save the day with sticky spiderweb-shooting powers, but Hollywood has given us some unrealistic Superhero qualifications.
When it comes to science, however, people are born with “superpowers” everyday — it all comes down to genetic mutations.
From HIV resistance to a super-sleeper mutation, here are 7 of the strangest genetic mutations that give people “superpowers.”
1. The unbreakable bone mutation: LRP5
Thanks to a genetic mutation called sclerosteosis, some humans are born with bones that are several times denser than the average human. In theory, people with the “unbreakable” bone mutation could walk away from car accidents unscathed.
At first, the thought of unbreakable bones seems like a blessing, but the excessive bone growth can cause pressure on cranial nerves and the brain, sometimes even leading to hearing loss.
On the bright side, doctors are trying to use the thick-bone mutation to find a cure for osteoporosis and other diseases that cause brittle bones.
2. The low-cholesterol mutation
Of course, what we put into our bodies affects our cholesterol levels, but genetics can play a big role as well.
In most people, the PCSK9 protein increases a “bad” cholesterol called LDL, but some people have a mutation in their PCSK9 gene that causes a non-functional version of the PCSK9 protein to be made. Individuals with this “faulty” PCSK9 maintain very low levels of LDL cholesterol without even trying.
So far, scientists have only found the rare mutation in a handful of African Americans, but those who have it benefit from a 90 percent reduced risk of heart disease.
3. The inability to feel pain: congenital analgesia
Imagine being able to put your hand on a burning stove or prick yourself with a needle without feeling any pain whatsoever. Some people have a rare genetic mutation that makes them able to do just that, a condition called congenital analgesia.
Similarly to the unbreakable-bone mutation, it seems like the inability to feel pain would be an awesome “superpower” to have. However, the condition is extremely dangerous since people with the disorder could have serious injuries, particularly internal ones, but have no idea.
The pharmaceutical industry is also attempting to capitalize on this genetic mutation, with hopes of creating an entirely new class of painkillers that would be non-addictive. It could be years of trials until a drug is released, however.
4. The super-sleeper mutation: hDEC2
While most of us need around 8 hours of sleep each night, some people with the hDEC2 gene can feel totally energized on just 4 hours of sleep every night.
Scientists call them, “short-sleepers,” and have been working to discover exactly what predisposes people to need just half the amount of sleep as the rest of us. Imagine how much more you could get done in a day!
5. The HIV-resistant mutation: CCR5
Some fortunate people have a genetic mutation that disables their copy of the CCR5 protein — the protein used by the HIV virus as a doorway into human cells.
If a person lacks CCR5, it’s extremely unlikely that they’ll become infected with the disease, and some people even have two copies of the gene mutation, making them the most resistant to HIV of all. Only about 1 percent of Caucasians have two copies of the gene mutation, and it’s even more rare in other ethnicities.
6. The malaria-resistant variation
Unfortunately, this “superpower” comes in the form of a blood disorder called sickle cell disease. People with two copies of the sickled hemoglobin gene suffer from a reduced ability to transport life-giving oxygen through the body. However, people with one sickle gene and one normal hemoglobin gene lead healthy lives and their condition renders them ten times less likely to catch a serious case of malaria!
Hopefully scientists will be able to use information from the malaria-resistant variation to produce more innovative malaria treatments in the future.
7. The super-sprinter variant: ACTN3
All of us have a gene called ACTN3, but variants of the gene lead to different abilities in sports.
Certain variants help the body make a protein called alpha-actinin-3, which controls fast-twitch muscle fibers and the flexing of the muscles during weightlifting or sprinting. It also controls the cells responsible for speedy muscle tensing.
In 2008, geneticists who were studying power athletes and elite sprinters found that very few of them had two defective ACTN3 copies, whereas nearly 20 percent of the general population inherited two defective copies — rendering these individuals completely deficient in the speedy-muscle-contracting protein, according to Business Insider.
This 2008 study is what led to ACTN3 being called the “sports gene” and it could help explain why some people are super athletes compared to those with no athletic ability.
Editor's note (January 26): The original article identified the PCSK9 mutation as "CETP" and claimed that it raises HDL when in fact CETP is a different gene entirely. We have updated the article to reflect that the mutation in PCSK9 lowers LDL and does not affect production of CETP. We apologize for any confusion this may have caused.